Sara A. Lewis

This study identifies PGBD5 as a transposase-derived gene essential for brain development in humans and mice, with deficiency causing intellectual disability and seizures.

The paper develops and validates an electronic informed consent platform for trio-based genomic research, showing high participant comprehension and satisfaction.

The paper evaluates the clinical impact of genetic findings in cerebral palsy, finding 8% of cases have actionable genetic diagnoses with moderate-high clinical utility.

This study shows that altering eIF2α phosphorylation in Drosophila models induces dystonia-like movements with cholinergic and D2-receptor origins and altered neuronal connectivity.

The paper describes three patients with AGAP1 deletion variants and uses a Drosophila model to identify endolysosomal trafficking defects and stress response abnormalities linked to neurodevelopmental disorders.